Revel Score:
ENST00000376971 (MANE Select)
0.020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23605631C>A , CM000682.2:g.23605631C>A | GRCh38 |
| NC_000020.10:g.23586268C>A , CM000682.1:g.23586268C>A | GRCh37 |
| NC_000020.9:g.23534268C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376971.4:c.234G>T MANE Select | ENSP00000366170.4:p.Arg78Ser | |
| ENST00000376971.3:c.234G>T | ENSP00000366170.3:p.Arg78Ser | |
| NM_001008693.2:c.234G>T | NP_001008693.2:p.Arg78Ser | |
| XM_005260665.3:c.234G>T | XP_005260722.1:p.Arg78Ser | |
| NM_001008693.3:c.234G>T MANE Select | NP_001008693.2:p.Arg78Ser |